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Items: 1 to 20 of 159

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv6694382copy number variation1nstd229human GRCh38 chr2: 191,690,880-191,691,040 , GRCh37.p13 chr2: 192,555,606-192,555,766 NABP1
    nsv6687504copy number variation1nstd229human GRCh38 chr2: 190,894,701-192,994,500 , GRCh37.p13 chr2: 191,759,427-193,859,226 LOC107985785, NABP1, 19 more genes
    nsv6683780copy number variation1nstd229human GRCh38 chr2: 191,689,422-191,700,477 , GRCh37.p13 chr2: 192,554,148-192,565,203 NABP1
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6636571copy number variation1nstd102humanPathogenic GRCh37 chr2: 187,152,754-199,960,525 , GRCh38.p12 chr2: 186,288,027-199,095,802 GAPDHP59, OSGEPL1-AS1, 135 more genes
    nsv6355483copy number variation1nstd223human GRCh38 chr2: 191,672,201-191,684,200 , GRCh37.p13 chr2: 192,536,927-192,548,926 NABP1
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6290916copy number variation1nstd102humanUncertain significance GRCh37 chr2: 192,323,573-193,027,319 , GRCh38.p12 chr2: 191,458,847-192,162,593 TMEFF2, DNAJB1P1, 6 more genes
    nsv5676445mobile element insertion2nstd211human GRCh38 chr2: 191,688,408-191,688,408 , GRCh37.p13 chr2: 192,553,134-192,553,134 , NABP1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5409812mobile element insertion1nstd206human GRCh38 chr2: 191,688,408-191,688,459 , GRCh37.p13 chr2: 192,553,134-192,553,185 , NABP1
    nsv5202017copy number variation1nstd204human GRCh38.p13 chr2: 191,673,701-191,683,700 , GRCh37.p13 chr2: 192,538,427-192,548,426 NABP1
    nsv5060845mobile element insertion1nstd203human GRCh38 chr2: 191,683,054-191,683,071 , GRCh37.p13 chr2: 192,547,780-192,547,797 NABP1
    nsv4909974copy number variation1nstd200human GRCh38 chr2: 191,689,417-191,700,479 , GRCh37.p13 chr2: 192,554,143-192,565,205 , NABP1
    nsv4795285copy number variation1nstd200human GRCh37 chr2: 192,554,136-192,565,203 , GRCh38.p12 chr2: 191,689,410-191,700,477 , NABP1
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728689copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 188,294,864-197,731,939 , GRCh38.p12 chr2: 187,430,137-196,867,215 COL3A1, COL5A2, 98 more genes
    nsv4728159copy number variation1nstd102humanUncertain significance GRCh37 chr2: 192,323,572-193,027,152 , GRCh38.p12 chr2: 191,458,846-192,162,426 TMEFF2, DNAJB1P1, 6 more genes
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